國家衛生研究院 NHRI:Item 3990099045/6254
English  |  正體中文  |  简体中文  |  Items with full text/Total items : 12145/12927 (94%)
Visitors : 913551      Online Users : 1150
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
Scope Tips:
  • please add "double quotation mark" for query phrases to get precise results
  • please goto advance search for comprehansive author search
    •  Adv. Search
    Home ‧ Login ‧ Upload ‧ Help ‧ About ‧ Administer Goto mobile version


    Please use this identifier to cite or link to this item: http://ir.nhri.org.tw/handle/3990099045/6254


    Title: Influence of single nucleotide polymorphisms in factor VIII and von Willebrand factor genes on plasma factor VIII activity: the ARIC study
    Authors: Campos, M;Buchanan, A;Yu, F;Barbalic, M;Xiao, Y;Chambless, LE;Wu, KK;Folsom, AR;Boerwinkle, E;Dong, JF
    Contributors: Institute of Cellular and Systems Medicine
    Abstract: Factor VIII (FVIII) functions as a cofactor for factor IXa in the contact coagulation pathway and circulates in a protective complex with von Willebrand factor (VWF). Plasma FVIII activity is strongly influenced by environmental and genetic factors through VWF-dependent and -independent mechanisms. SNPs of the coding and promoter sequence in the FVIII gene have been extensively studied for effects on FVIII synthesis, secretion and activity, but impacts of non-disease causing intronic SNPs remain largely unknown. We analyzed FVIII SNPs and FVIII activity in 10,434 healthy Americans of European (EA) or African (AA) descents in the Atherosclerosis Risk in Communities study. Among covariates, age, race, diabetes and ABO contributed 2.2%, 3.5%, 4% and 10.7% to FVIII inter-subject variation, respectively. Four intronic FVIII SNPs associated with FVIII activity and eight with FVIII-VWF ratio in a gender- and race-dependent manner. The FVIII haplotypes AT and GCTTTT also associated with FVIII activity. Seven VWF SNPs were associated with FVIII activity in EA subjects, but no FVIII SNPs were associated with VWF antigen. These data demonstrate that intronic SNPs could directly or indirectly influence inter-subject variation of FVIII activity. Further investigation may reveal novel mechanisms of regulating FVIII expression and activity.
    Date: 2012-02
    Relation: Blood. 2012 Feb;119(8):1929-1934.
    Link to: http://dx.doi.org/10.1182/blood-2011-10-383661
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0006-4971&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000300713800023
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84857517603
    Appears in Collections:[Kenneth Kun-Yu Wu] Periodical Articles

    Files in This Item:

    File Description SizeFormat
    NCS2012022001.pdf336KbAdobe PDF534View/Open


    All items in NHRI are protected by copyright, with all rights reserved.

    Related Items in TAIR

    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - Feedback